Varaico: Literature-Extracted Genetic Variants

MEF2C

328 papers

RefSeq Summary

This locus encodes a member of the MADS box transcription enhancer factor 2 (MEF2) family of proteins, which play a role in myogenesis. The encoded protein, MEF2 polypeptide C, has both trans-activati...

Pfam Domains

SRF-TFaa 10–57UCSCSRF-type transcription factor (DNA-binding and dimerisation domain)

HJURP_Caa 95–155UCSCHolliday junction regulator protein family C-terminal repeat

Gene Aliases

HGNC Name

myocyte enhancer factor 2C

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

12 papers

NM_002397.5

p.G27A

c.80G>C

Surrounding Variants

1 paper

NM_002397.5

p.G27E

c.80G>A

2 papers

NM_002397.5

p.F26delFs

c.78delA

2 papers

NM_002397.5

p.L28S

c.83T>C

2 papers

NM_002397.5

p.F26fs

c.76_77fs

1 paper

NM_002397.5

p.L28L

c.84G>A

1 paper

NM_002397.5

p.K25N

c.75A>T

1 paper

NM_002397.5

p.K25N

c.75A>C

1 paper

NM_002397.5

p.R24T

c.71G>C

5 papers

NM_002397.5

p.R24K

c.71G>A

3 papers

NM_002397.5

p.K30N

c.90G>T

3 papers

NM_002397.5

p.K30N

c.90G>C

1 paper

NM_002397.5

p.K23N

c.69G>C